Thoracic dystrophies
Gene: NPHP3
NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
2 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- Complete
- Panels with this gene
-
- Familial Neural Tube Defects
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- CAKUT
- Intellectual disability
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NPHP3 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory